Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major
cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we …

Congenital heart disease (CHD) is extremely rarely reported in 48, XYY,+ 21 karyotype.
Herein, we reported one case of 48, XYY,+ 21 karyotype with CHD and reviewed the …

Cardiovascular malformations in Klinefelter's syndrome: Report of three cases Page 1 Volume
80 Brie[ clinical and laboratory observations 4 7 1 Number 3 DISCUSSION The decreased …

Objective A higher frequency of twin births in sibships of Klinefelter syndrome patients and
also monozygotic or dizygotic twins, themselves being affected by Klinefelter syndrome have …

Down's syndrome has its own dysmorphic findings and is accompanied by mental
retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical …

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double
aneuploidy 48, XXY,+ 21 in a neonate with congenital heart defects. The 28-day-old …

We read with great interest the article by Osoegawa et al.[2014] which showed increased
risk of sex chromosome aneuploidy among males with congenital conotruncal defects. A boy …

To complement the 2005 Annual Clinical Focus on medical genomics, AFP is publishing a
series of short reviews on genetic syndromes. This series was designed to increase …

Klinefelter syndrome (KS) is the most common sex chromosomal abnormality in men, with a
prevalence of 0.12% in the general population based on combined neonatal surveys [Hook …

Klinefelter syndrome (KFS), is the most common disorder of the sex chromosomes, affecting
1/1000 male births, and presents with underdeveloped secondary sexual characteristics …